R41L (p.Arg41Leu) variant of HLA-DPB1 (P04440)
R41L (p.Arg41Leu) in HLA-DPB1 (P04440) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in allele DPB1*77:01. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
R41L (p.Arg41Leu) variant details
- p.Arg41Leu
- rs41540313
- TOPMed rs41540313
- gnomAD rs41540313
- UniProt VAR 060638
- Benign
- in allele DPB1*77:01
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.20
- CADD 16.60
- PolyPhen-2 0.03
- SIFT 0.05
- EBI: Benign (in allele DPB1*77:01)
- UniProt: Benign (in allele DPB1*77:01)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available